Variant report

Variant	rs3027009
Chromosome Location	chr1:159173887-159173888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:159173884-159174430	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159174157-159174167
2	GATA1	chr1:159173489-159175322	PBDE	blood:	n/a	chr1:159174313-159174323 chr1:159174315-159174332 chr1:159174671-159174692 chr1:159174314-159174323 chr1:159174679-159174696 chr1:159174678-159174685 chr1:159174314-159174321 chr1:159174678-159174685 chr1:159174312-159174325 chr1:159174678-159174685
3	BHLHE40	chr1:159173666-159174771	K562	blood:	n/a	n/a
4	JUND	chr1:159173467-159174386	K562	blood:	n/a	n/a
5	POLR2A	chr1:159173266-159177005	PBDE	blood:	n/a	n/a
6	EGR1	chr1:159173885-159174238	K562	blood:	n/a	chr1:159174155-159174164 chr1:159174153-159174167 chr1:159174155-159174165 chr1:159174154-159174167 chr1:159174155-159174165
7	MAZ	chr1:159173473-159175086	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
8	EP300	chr1:159173530-159174850	K562	blood:	n/a	chr1:159173953-159173963 chr1:159173591-159173605
9	MAX	chr1:159173529-159174843	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167

Variant related genes	Relation type
DARC	TF binding region
ENSG00000225670	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3027013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3027031	0.94[EUR][1000 genomes]
rs41313908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61828181	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs965359	1.00[GIH][hapmap]

Variant related diseases (count:1)

Disease	PMID	Source
Lean body mass and age at menarche (combined)	22744181	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159158400-159174000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:159158800-159177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:159158800-159177800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:159158800-159188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:159168000-159174000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:159168000-159177600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:159168400-159177600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:159170400-159174200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:159170400-159177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:159170800-159174400	Enhancers	Lung	lung
11	chr1:159170800-159177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:159171400-159174800	Weak transcription	Esophagus	oesophagus
13	chr1:159171800-159174800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:159171800-159176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:159172200-159174400	Enhancers	Spleen	Spleen
16	chr1:159172200-159175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:159172400-159174000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:159172600-159177200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:159173000-159176400	Enhancers	GM12878-XiMat	blood
20	chr1:159173200-159174600	Weak transcription	Fetal Brain Female	brain
21	chr1:159173400-159174800	Flanking Active TSS	K562	blood
22	chr1:159173400-159176200	Enhancers	Placenta	Placenta
23	chr1:159173600-159174200	Enhancers	Brain Anterior Caudate	brain
24	chr1:159173600-159175800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:159173800-159174000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr1:159173800-159175000	Enhancers	Fetal Brain Male	brain

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